S20F (p.Ser20Phe) variant of SERPINC1 (Antithrombin-III)
S20F (p.Ser20Phe) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S20F (p.Ser20Phe) variant details
- p.Ser20Phe
- ESP rs369828221
- ExAC rs369828221
- TOPMed rs369828221
- gnomAD rs369828221
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.21
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.71
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available